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2025-05-09 18:33:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006382 2780 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens CMT1A duplicated region transcript 1 (CDRT1), mRNA.
ACCESSION NM_006382 XM_940241
VERSION NM_006382.3 GI:157694486
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2780)
AUTHORS Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
Harper,J.W.
TITLE Systematic analysis and nomenclature of mammalian F-box proteins
JOURNAL Genes Dev. 18 (21), 2573-2580 (2004)
PUBMED 15520277
REFERENCE 2 (bases 1 to 2780)
AUTHORS Inoue,K., Dewar,K., Katsanis,N., Reiter,L.T., Lander,E.S.,
Devon,K.L., Wyman,D.W., Lupski,J.R. and Birren,B.
TITLE The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals
unique genome architectural features and provides insights into the
recent evolution of new genes
JOURNAL Genome Res. 11 (6), 1018-1033 (2001)
PUBMED 11381029
REFERENCE 3 (bases 1 to 2780)
AUTHORS Kennerson,M.L., Nassif,N.T. and Nicholson,G.A.
TITLE Genomic structure and physical mapping of C17orf1: a gene
associated with the proximal element of the CMT1A-REP binary repeat
JOURNAL Genomics 53 (1), 110-112 (1998)
PUBMED 9787083
REFERENCE 4 (bases 1 to 2780)
AUTHORS Kennerson,M.L., Nassif,N.T., Dawkins,J.L., DeKroon,R.M., Yang,J.G.
and Nicholson,G.A.
TITLE The Charcot-Marie-Tooth binary repeat contains a gene transcribed
from the opposite strand of a partially duplicated region of the
COX10 gene
JOURNAL Genomics 46 (1), 61-69 (1997)
PUBMED 9403059
REFERENCE 5 (bases 1 to 2780)
AUTHORS Kennerson,M.L., Gordon,M.J., Blair,I.P. and Nicholson,G.A.
TITLE Single test for two hereditary neuropathies, CMT1A and HNPP
JOURNAL Clin. Chem. 41 (10), 1534-1535 (1995)
PUBMED 7586531
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from AK057407.1,
AC005324.1, AB209899.1, U65652.1, AC005838.2 and BU738380.1.
On Sep 27, 2007 this sequence version replaced gi:142370828.
Summary: Members of the F-box protein family, such as FBXW10, are
characterized by an approximately 40-amino acid F-box motif. SCF
complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM
603034), and F-box proteins, act as protein-ubiquitin ligases.
F-box proteins interact with SKP1 through the F box, and they
interact with ubiquitination targets through other protein
interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied
by OMIM, Mar 2008].
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025083
[ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-359 AK057407.1 1-359
360-360 AC005324.1 145680-145680
361-925 AK057407.1 361-925
926-2039 AB209899.1 1708-2821
2040-2118 AK057407.1 1804-1882
2119-2119 AC005324.1 171609-171609
2120-2163 AK057407.1 1884-1927
2164-2330 U65652.1 693-859
2331-2331 AC005838.2 2397-2397
2332-2629 BU738380.1 152-449 c
2630-2630 AC005838.2 2696-2696
2631-2780 BU738380.1 1-150 c
FEATURES Location/Qualifiers
source 1..2780
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p12"
gene 1..2780
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="CMT1A duplicated region transcript 1"
/db_xref="GeneID:374286"
/db_xref="HGNC:14379"
/db_xref="MIM:604596"
exon 1..697
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
misc_feature 172..174
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="upstream in-frame stop codon"
CDS 193..2451
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="Charcot-Marie-Tooth duplicated region transcript 1;
F-box and WD-40 domain protein 10 pseudogene 1; F-box and
WD repeat domain containing 10 pseudogene 1"
/codon_start=1
/product="CMT1A duplicated region transcript 1 protein"
/protein_id="NP_006373.2"
/db_xref="GI:157694487"
/db_xref="CCDS:CCDS45619.1"
/db_xref="GeneID:374286"
/db_xref="HGNC:14379"
/db_xref="MIM:604596"
/translation="
MENLESRLKNAPYFRCEKGTDSIPLCRKCETRVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRIDLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNRISVCHISTFAKRINVGWNGIEPSATAQGGNASLTECAHVRLHIAGHLPASRLPVAAVQPMTGGMAPTTAPTHVLAMLILFSGV
"
misc_feature 697..810
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 1"
misc_feature 1417..1533
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 2"
misc_feature 1444..2151
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="WD40 domain, found in a number of eukaryotic
proteins that cover a wide variety of functions including
adaptor/regulatory modules in signal transduction,
pre-mRNA processing and cytoskeleton assembly; typically
contains a GH dipeptide 11-24 residues from...; Region:
WD40; cd00200"
/db_xref="CDD:29257"
misc_feature <1465..2244
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="FOG: WD40 repeat [General function prediction
only]; Region: COG2319"
/db_xref="CDD:32473"
misc_feature order(1471..1473,1483..1485,1501..1506,1543..1548,
1600..1602,1612..1614,1630..1635,1669..1674,1717..1719,
1732..1734,1750..1755,1789..1791,1834..1836,1849..1851,
1867..1872,1906..1911,1957..1959,1969..1971,1987..1992,
2029..2034,2077..2079,2092..2094,2110..2115,2149..2151)
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/note="structural tetrad; other site"
/db_xref="CDD:29257"
misc_feature 1543..1662
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 3"
misc_feature 1669..1788
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 4"
misc_feature 1792..1899
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 5"
misc_feature 1906..2019
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 6"
misc_feature 2023..2148
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95170.3);
Region: WD 7"
exon 698..862
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 863..1063
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1064..1191
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1192..1314
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1315..1424
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1425..1625
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1626..1747
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
STS 1661..2526
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/db_xref="UniSTS:494637"
exon 1748..1896
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 1897..2039
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 2040..2198
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
exon 2199..2763
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/inference="alignment:Splign:1.39.8"
variation 2331
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151442"
variation 2630
/gene="CDRT1"
/gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
FBXW10P1; HREP; SM25H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151443"
ORIGIN
agacttctgctggcagttactgagagagataggctttccatccatggcagccatttacttttgctctgggagacgtttgtaatagaaaaggcacaactggggtatttattcatttccccccgttcctctagtgtttggtggcgttgccgttgcaagtgcgcagggctaaaatgaactggttatcttaggatcatggaaaacctggaatcaaggctcaagaatgccccctattttcgttgtgagaagggaaccgattccatccctctatgccggaagtgtgagacgcgtgtcttagcctggaagatcttctctaccaaagagtggttctgcaggatcaatgacatatcacagaggaggtttctagttggcattctgaagcagttaaatagcttatatttgttacactatttccaaaatatccttcagaccacacagggaaaggatttcatctataacaggtcccggatcgacctcagcaagaaagaggggaaagttgtgaagtcctccttgaaccaaatgttggataaaacagtagaacagaagatgaaagagatcttgtattggtttgcgaacagcacccagtggaccaaggcgaattatactctcttactgctgcagatgtgcaaccccaaattactgctcactgctgccaatgtgatcagagtcctgtttctgagagaggagaacaatatctcagggctcaatcaagacatcacagatgtgtgtttttcccctgagaaagaccacagctccaagtctgcgacctcacaagtctattggacagccaaaactcagcacacatcccttcctttgtccaaagccccagaaaatgaacacttccttggggcagcatctaaccctgaggaaccatggaggaattcactccggtgtatatccgaaatgaataggctgttttctggaaaagcagacataaccaagccagggtacgatccctgcaatctattggttgacctggatgacatcagagacctgtcttctgggttcagcaaataccgagacttcatccgttacctgcccatccacctctccaagtacattctaagaatgctggatagacacaccctgaacaagtgcgcctctgtgagccagcactgggccgccatggctcaacaggtcaagatggacttgtcagcgcacggcttcattcagaaccagattaccttcttgcaggggtcctatacaagaggaattgatcctaattatgccaataaggtttctatcccagttcctaaaatggtagatgacgggaagagcatgcgtgtgaaacatccgaagtggaagttgagaacgaagaatgagtacaacctgtggactgcataccagaacgaggaaacgcagcaggtcctgatggaggagagaaatgttttctgtgggacctacaatgttcgcattctctctgacacgtgggatcaaaaccgagtcatccactattccgggggagatctgatagctgtgtcatctaatcgaaagatccatcttctggacatcatacaagtgaaagcgatacccgttgaattccgaggccatgctgggagtgtccgggccctcttcctgtgtgaggaggaaaactttctcctaagcgggagctatgacctaagtatcagatactgggatctgaaaagtggggtttgcacacgaatcttcggtggtcaccaggggactatcacttgcatggacttgtgtaagaacaggctcgtatctggaggaagagattgccaggtaaaagtatgggatgtagacacagggaagtgcctgaagacgtttagacacaaagaccccatcttggccaccaggatcaatgatacctacattgtgagcagctgtgagcgagggctggtgaaagtgtggcacattgccatggcccagttggtaaagactctcagtggccacgagggagctgtgaaatgcctgttctttgaccagtggcatctcctctcaggaagcactgatggcctggtcatggcctggagcatggtggggaagtacgagcgctgcctgatggccttcaagcatcccaaagaggtgctcgacgtgtcccttctcttcctccgggtcatcagcgcctgtgcagatggcaagatccgaatttacaatttcttcaatgggaactgtatgaaggtgataaaagccaatggcagaggcgatcctgtgctgtccttctttattcagggcaacagaatttcagtctgccacatcagcacatttgctaaaagaattaacgtgggatggaatggaatcgaaccaagtgctacagctcagggaggaaatgcctccttgaccgagtgtgctcatgtgagactccacatcgcaggacacttaccagcatcgaggctgcccgtggccgctgtccagcccatgacaggcgggatggccccaaccacagctccgacccatgtgttggcaatgctgatccttttcagtggtgtgtagcagcaggtatacaggaaaatgttgaagagccccagggctcctgtgagtggattcacccccaaggtcagaatggcaactcctggaacagcacaacaagtggcaaaggacacagctagcaacgggctggaaaaaggcagagaacgtggagtgatcatctccaactcaactcaatcacactgcctaaaatcggcactgacaaagtacaaataatccacctatccagtagaggcagcactgatctggctgattcctggatatggggaatcctctttatgaaacaaacttacaataagaaagaatatgtttgtgggaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:374286 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:374286 -> Biological process: GO:0008150 [biological_process] evidence: ND
GeneID:374286 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
by
@meso_cacase at
DBCLS
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